ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs)

dbSNP: rs886048594
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672867 SCV000798015 likely pathogenic Autosomal recessive osteopetrosis 1 2018-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850622 SCV002243163 pathogenic not provided 2021-03-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu102Trpfs*62) in the TCIRG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCIRG1 are known to be pathogenic (PMID: 10888887, 10942435, 11532986, 19448635). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with TCIRG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 305784). For these reasons, this variant has been classified as Pathogenic.

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